Biologic response to subcutaneous and intranasal therapy with desmopressin in a large Amish kindred with Type 2M von Willebrand disease

Haemophilia

Volumn 14, Issue 3, 2008, Pages 539-548

  Sharthkumar, A ^a   Greist, A ^a   Di Paola, J ^c   Winay, J ^a   Roberson, C ^a   Heiman, M ^a   Herbert, S ^b   Parameswaran, R ^d   Shapiro, Amy ^a  

^a INDIANA HEMOPHILIA AND THROMBOSIS CENTER   (United States)

^b New Mexico Cancer Care Associates   (United States)

^c UNIVERSITY OF IOWA HOSPITALS AND CLINICS   (United States)

^d TUFTS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Desmopressin challenge test; Type 2M von Willebrand disease

Indexed keywords

DESMOPRESSIN; DESMOPRESSIN ACETATE; RISTOCETIN; VON WILLEBRAND FACTOR;

ADULT; AMISH; AREA UNDER THE CURVE; ARTICLE; CLINICAL ARTICLE; DRUG BIOAVAILABILITY; DRUG EFFICACY; DRUG HALF LIFE; DRUG RESPONSE; DRUG SAFETY; ENZYME ACTIVITY; FEMALE; GEL ELECTROPHORESIS; HEADACHE; HOT FLUSH; HUMAN; MALE; PATIENT MONITORING; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SIDE EFFECT; VITAL SIGN; VON WILLEBRAND DISEASE; VON WILLEBRAND DISEASE TYPE 2M;

ADMINISTRATION, INTRANASAL; ADULT; BLEEDING TIME; DEAMINO ARGININE VASOPRESSIN; FEMALE; FOUNDER EFFECT; HEMOSTASIS; HEMOSTATICS; HUMANS; INJECTIONS, SUBCUTANEOUS; MALE; MIDDLE AGED; MUTATION, MISSENSE; TIME FACTORS; TREATMENT OUTCOME; VON WILLEBRAND DISEASE; VON WILLEBRAND FACTOR;

EID: 43149088040     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01666.x     Document Type: Article

References (32)

1. Mannucci PM, Ruggeri ZM, Pareti FI, Capitanio A. 1-Deamino-8-d-arginine vasopressin: A new pharmacological approach to the management of haemophilia and von Willebrands' diseases. Lancet 1977; 1: 869-72.
2. Mannucci PM. How I treat patients with von Willebrand disease. Blood 2001; 97: 1915-9.
3. Sakariassen KS, Cattaneo M, vd Berg A, Ruggeri ZM, Mannucci PM, Sixma JJ. DDAVP enhances platelet adherence and platelet aggregate growth on human artery subendothelium. Blood 1984; 64: 229-36.
4. Mannucci PM, Pareti FI, Holmberg L, Nilsson IM, Ruggeri ZM. Studies on the prolonged bleeding time in von Willebrand's disease. J Lab Clin Med 1976; 88: 662-71.
5. Lethagen S, Harris AS, Sjorin E, Nilsson IM. Intranasal and intravenous administration of desmopressin: Effect on F VIII/vWF, pharmacokinetics and reproducibility. Thromb Haemost 1987; 58: 1033-6.
6. Rodeghiero F, Castaman G, Mannucci PM. Prospective multicenter study on subcutaneous concentrated desmopressin for home treatment of patients with von Willebrand disease and mild or moderate hemophilia A. Thromb Haemost 1996; 76: 692-6.
7. Di Paola JMJ, Lentz S, Montgomery R et al. A missense mutation in exon 28 (C4120T) of the von Willebrand factor gene is the cause for von Willebrand disease in a large Amish pedigree. J Thromb Haemost 2005; 3(Suppl. 1): P1472.
8. Hilbert L, Jenkins PV, Gaucher C et al. Type 2M vWD resulting from a lysine deletion within a four lysine residue repeat in the A1 loop of von Willebrand factor. Thromb Haemost 2000; 84: 188-94.
9. Schneppenheim R, Budde U, Ruggeri ZM. A molecular approach to the classification of von Willebrand disease. Best Pract Res Clin Haematol 2001; 14: 281-98.
10. Hilbert L, Gaucher C, Mazurier C. Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF. Blood 1995; 86: 1010-8.
11. Goodeve A, Eikenboom J, Castaman G et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, molecular and clinical markers for the diagnosis and management of Type 1 von Willebrand disease (MCMDM-1VWD). Blood 2007; 109: 112-21.
12. Federici AB, Mazurier C, Berntorp E et al. Biologic response to desmopressin in patients with severe type 1 and type 2 von Willebrand disease: Results of a multicenter European study. Blood 2004; 103: 2032-8.
13. James PD, Notley C, Hegadorn C et al. Challenges in defining type 2M von Willebrand disease: Results from a Canadian cohort study. J Thromb Haemost 2007; 5: 1914-22.
14. Castaman G, Eikenboom JC, Lattuada A, Mannucci PM, Rodeghiero F. Heightened proteolysis of the von Willebrand factor subunit in patients with von Willebrand disease hemizygous or homozygous for the C2362F mutation. Br J Haematol 2000; 108: 188-90.
15. Schooten CJ, Tjernberg P, Westein E et al. Cysteine-mutations in von Willebrand factor associated with increased clearance. J Thromb Haemost 2005; 3: 2228-37.
16. Casonato A, Cattini MG, Soldera C et al. A new L1446P mutation is responsible for impaired von Willebrand factor synthesis, structure, and function. J Lab Clin Med 2004; 144: 254-9.
17. Casonato A, De Marco L, Gallinaro L et al. Altered von Willebrand factor subunit proteolysis and multimer processing associated with the Cys2362Phe mutation in the B2 domain. Thromb Haemost 2007; 97: 527-33.
18. Casonato A, Pontara E, Sartorello F, Bertomoro A, Durante C, Girolami A. Type 2M von Willebrand disease variant characterized by abnormal von willebrand factor multimerization. J Lab Clin Med 2001; 137: 70-6.
19. Harris AS, Hedner P, Vilhardt H. Nasal administration of desmopressin by spray and drops. J Pharm Pharmacol 1987; 39: 932-4.
20. Kohler M, Hellstern P, Miyashita C, von Blohn G, Wenzel E. Comparative study of intranasal, subcutaneous and intravenous administration of desamino-D-arginine vasopressin (DDAVP). Thromb Haemost 1986; 55: 108-11.
21. Mannucci PM, Vicente V, Alberca I et al. Intravenous and subcutaneous administration of desmopressin (DDAVP) to hemophiliacs: Pharmacokinetics and factor VIII responses. Thromb Haemost 1987; 58: 1037-9.
22. Di Paola J, Rickard M, Murray J, Burns T, Wang K, Amy S. A genome-wide linkage scan of a large Amish pedigree with von Willebrand disease (VWD) identified several chromosomal regions that may contain potential modifiers of von Willebrand factor (VWF) levels and disease variability. Blood (ASH Annual Meeting Abstracts) 2006; 106: 176.
23. Sadler JE, Budde U, Eikenboom JC et al. Update on the pathophysiology and classification of von Willebrand disease: A report of the Subcommittee on von Willebrand factor. J Thromb Haemost 2006; 4: 2103-14.
24. Pearson SL, Hessner MJ. A(1,2)BO(1,2) genotyping by multiplexed allele-specific PCR. Br J Haematol 1998; 100: 229-34.
25. Goodeve AC, Eikenboom JC, Ginsburg D et al. A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. On behalf of the ISTH SSC Subcommittee on von Willebrand factor. Thromb Haemost 2001; 85: 929-31.
26. Gibaldi M, Levy G. Pharmacokinetics in clinical practice. 2. Applications. JAMA 1976; 235: 1987-92.
27. http://www.humatep.com/pdf/HumateP_PI.pdf.
28. Federici AB, Castaman G, Franchini M et al. Clinical use of Haemate P in inherited von Willebrand's disease: A cohort study on 100 Italian patients. Haematologica 2007; 92: 944-51.
29. Federici AB, Mannucci PM. Management of inherited von Willebrand disease in 2007. Ann Med 2007; 39: 346-58.
30. Castaman G, Rodeghiero F, Mannucci PM. The elusive pathogenesis of von Willebrand disease Vicenza. Blood 2002; 99: 4243-4; author reply 4.
31. Orstavik KH, Kornstad L, Reisner H, Berg K. Possible effect of secretor locus on plasma concentration of factor VIII and von Willebrand factor. Blood 1989; 73: 990-3.
32. Mohlke KL, Purkayastha AA, Westrick RJ et al. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell 1999; 96: 111-20.